R498H (p.Arg498His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R498H (p.Arg498His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R498H (p.Arg498His) variant details
- p.Arg498His
- rs120074117
- ClinGen CA234971
- ClinVar RCV000179324
- ClinVar RCV000806406
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.96
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphi)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private… (PMID 15221801)
- Cited in: Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. (PMID 27338287)